Search Results - "Cisarova, Katarina"

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data by Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo

“…© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation,…”
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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity by Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo

“…We used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions and cancer. When applied to…”
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Genomic and transcriptomic landscape of conjunctival melanoma by Cisarova, Katarina, Folcher, Marc, El Zaoui, Ikram, Pescini-Gobert, Rosanna, Peter, Virginie G, Royer-Bertrand, Beryl, Zografos, Leonidas, Schalenbourg, Ann, Nicolas, Michael, Rimoldi, Donata, Leyvraz, Serge, Riggi, Nicolò, Moulin, Alexandre P, Rivolta, Carlo

“…Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from…”
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy by Nikopoulos, Konstantinos, Cisarova, Katarina, Quinodoz, Mathieu, Koskiniemi-Kuendig, Hanna, Miyake, Noriko, Farinelli, Pietro, Rehman, Atta Ur, Khan, Muhammad Imran, Prunotto, Andrea, Akiyama, Masato, Kamatani, Yoichiro, Terao, Chikashi, Miya, Fuyuki, Ikeda, Yasuhiro, Ueno, Shinji, Fuse, Nobuo, Murakami, Akira, Wada, Yuko, Terasaki, Hiroko, Sonoda, Koh-Hei, Ishibashi, Tatsuro, Kubo, Michiaki, Cremers, Frans P. M., Kutalik, Zoltán, Matsumoto, Naomichi, Nishiguchi, Koji M., Nakazawa, Toru, Rivolta, Carlo

“…Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen…”
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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Royer-Bertrand, Beryl, Jequier Gygax, Marine, Cisarova, Katarina, Rosenfeld, Jill A, Bassetti, Jennifer A, Moldovan, Oana, O'Heir, Emily, Burrage, Lindsay C, Allen, Jake, Emrick, Lisa T, Eastman, Emma, Kumps, Camille, Abbas, Safdar, Van Winckel, Geraldine, Chabane, Nadia, Zackai, Elaine H, Lebon, Sebastien, Keena, Beth, Bhoj, Elizabeth J, Umair, Muhammad, Li, Dong, Donald, Kirsten A, Superti-Furga, Andrea

“…De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with…”
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A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa by Nishiguchi, Koji M., Miya, Fuyuki, Mori, Yuka, Fujita, Kosuke, Akiyama, Masato, Kamatani, Takashi, Koyanagi, Yoshito, Sato, Kota, Takigawa, Toru, Ueno, Shinji, Tsugita, Misato, Kunikata, Hiroshi, Cisarova, Katarina, Nishino, Jo, Murakami, Akira, Abe, Toshiaki, Momozawa, Yukihide, Terasaki, Hiroko, Wada, Yuko, Sonoda, Koh-Hei, Rivolta, Carlo, Tsunoda, Tatsuhiko, Tsujikawa, Motokazu, Ikeda, Yasuhiro, Nakazawa, Toru

“…The genetic basis of Japanese autosomal recessive retinitis pigmentosa (ARRP) remains largely unknown. Herein, we applied a 2-step genome-wide association…”
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DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders by Quinodoz, Mathieu, Royer-Bertrand, Beryl, Cisarova, Katarina, Di Gioia, Silvio Alessandro, Superti-Furga, Andrea, Rivolta, Carlo

“…In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult,…”
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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations by Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

“…To assess the potential of detecting copy number variations (CNVs) directly from exome sequencing (ES) data in diagnostic settings, we developed a…”
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Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing by Royer-Bertrand, Beryl, Torsello, Matteo, Rimoldi, Donata, El Zaoui, Ikram, Cisarova, Katarina, Pescini-Gobert, Rosanna, Raynaud, Franck, Zografos, Leonidas, Schalenbourg, Ann, Speiser, Daniel, Nicolas, Michael, Vallat, Laureen, Klein, Robert, Leyvraz, Serge, Ciriello, Giovanni, Riggi, Nicolò, Moulin, Alexandre P., Rivolta, Carlo

“…Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we…”
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Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants by Atallah, Isis, Cisarova, Katarina, Guenot, Cécile, Dubruc, Estelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Unger, Sheila

“…Five percent of fetuses presents increased fetal nuchal translucency. It is a well-known marker for aneuploidy (T21, Turner syndrome) and a variety of…”
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A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia by Cisarova, Katarina, Garavelli, Livia, Caraffi, Stefano Giuseppe, Peluso, Francesca, Valeri, Lara, Gargano, Giancarlo, Gavioli, Sara, Trimarchi, Gabriele, Neri, Alberto, Campos‐Xavier, Belinda, Superti‐Furga, Andrea

“…Cranio‐lenticulo‐sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family…”
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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects by Nikopoulos, Konstantinos, Farinelli, Pietro, Giangreco, Basilio, Tsika, Chrysanthi, Royer-Bertrand, Beryl, Mbefo, Martial K., Bedoni, Nicola, Kjellström, Ulrika, El Zaoui, Ikram, Di Gioia, Silvio Alessandro, Balzano, Sara, Cisarova, Katarina, Messina, Andrea, Decembrini, Sarah, Plainis, Sotiris, Blazaki, Styliani V., Khan, Muhammad Imran, Micheal, Shazia, Boldt, Karsten, Ueffing, Marius, Moulin, Alexandre P., Cremers, Frans P.M., Roepman, Ronald, Arsenijevic, Yvan, Tsilimbaris, Miltiadis K., Andréasson, Sten, Rivolta, Carlo

“…Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and…”
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Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening by Nardou, Katya, Nicolas, Michael, Kuttler, Fabien, Cisarova, Katarina, Celik, Elifnaz, Quinodoz, Mathieu, Riggi, Nicolo, Michielin, Olivier, Rivolta, Carlo, Turcatti, Gerardo, Moulin, Alexandre Pierre

“…Recent evidence suggests that numerous similarities exist between the genomic landscapes of both conjunctival and cutaneous melanoma. Since alterations of…”
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CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures by Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc

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The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis by Peter, Virginie G, Kaminska, Karolina, Santos, Cristina, Quinodoz, Mathieu, Cancellieri, Francesca, Cisarova, Katarina, Pescini Gobert, Rosanna, Rodrigues, Raquel, Custódio, Sónia, Paris, Liliana P, Sousa, Ana Berta, Coutinho Santos, Luisa, Rivolta, Carlo

“…Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost…”
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A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma by Keskin, Tugba, Rucci, Beatrice, Cornaz-Buros, Sandrine, Martin, Patricia, Fusco, Carlo, Broye, Liliane, Cisarova, Katarina, Perez, Elizabeth M, Letovanec, Igor, La Rosa, Stefano, Cherix, Stephane, Diezi, Manuel, Renella, Raffaele, Provero, Paolo, Suvà, Mario L, Stamenkovic, Ivan, Riggi, Nicolò

“…Targeting of the most aggressive tumor cell subpopulations is key for effective management of most solid malignancies. However, the metastable nature of tumor…”
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Missense Mutation in the Rabbit Melanocortin 4 Receptor (MC4R) Gene is Associated with Finisching Weight in a Meat Rabbit Line by Fontanesi, Luca, Scotti, Emilio, Cisarova, Katarina, Battista, Piero Di, Dall'Olio, Stefania, Fornasini, Daniela, Frabetti, Andrea

“…In this study we resequenced 1729 bp of the rabbit melanocortin 4 receptor (MC4 R) gene in 31 rabbits from different breeds/lines and identified ten…”
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A missense mutation in the rabbit melanocortin 4 receptor (MC4R) gene is associated with finishing weight in a meat rabbit line by Fontanesi, Luca, Scotti, Emilio, Cisarova, Katarina, Di Battista, Piero, Dall'olio, Stefania, Fornasini, Daniela, Frabetti, Andrea

“…In this study we resequenced 1729 bp of the rabbit melanocortin 4 receptor (MC4 R) gene in 31 rabbits from different breeds/lines and identified ten…”
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A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia by Cisarova, Katarina, Garavelli, Livia, Caraffi, Stefano Giuseppe, Peluso, Francesca, Valeri, Lara, Gargano, Giancarlo, Gavioli, Sara, Trimarchi, Gabriele, Neri, Alberto, Campos-Xavier, Belinda, Superti-Furga, Andrea

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